http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#head
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#assertion
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#provenance
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#assertion
http://rdf.disgenet.org/resource/gda/DGNbd2e6d02b5683641011fdb1fca49616e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/65217
http://rdf.disgenet.org/resource/gda/DGNbd2e6d02b5683641011fdb1fca49616e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0271097
http://rdf.disgenet.org/resource/gda/DGNbd2e6d02b5683641011fdb1fca49616e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#provenance
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#assertion
http://purl.org/dc/terms/description
[Complete ophthalmic examinations were conducted on two boys and two girls from two related Hutterite families diagnosed with Usher syndrome type I. DNA from patients and their parents was first evaluated for a mutation in exon 10 of the protocadherin-related 15 (PCDH15) gene (c.1471delG), previously reported in southern Alberta Hutterite patients with Usher syndrome (USH1F).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22690115
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations inferred from text-mining the literature.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/dc/terms/created
2017-10-17T13:18:52+02:00
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1365870.RA58UbJYyvc6b_O0wrsYbV5Ag_GiR7twA0cb3fGt4aBX4
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0